Variant report

Variant	esv3403524
Chromosome Location	chr11:32387376-32392574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32392237..32394630-chr11:32604009..32606559,2	K562	blood:

Variant related genes	Relation type
ENSG00000149100	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12792172	chr11:32387394-32387395	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs568137488	chr11:32387395-32387396	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs60724182	chr11:32387409-32387410	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs11031748	chr11:32387435-32387436	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533273136	chr11:32387452-32387453	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs546968872	chr11:32387544-32387545	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs11031749	chr11:32387562-32387563	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535542623	chr11:32387564-32387565	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs549438037	chr11:32387567-32387568	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12792903	chr11:32387578-32387579	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs199721836	chr11:32387584-32387585	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs370936196	chr11:32387585-32387586	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs12792917	chr11:32387596-32387597	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs7101933	chr11:32387617-32387618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186757631	chr11:32387635-32387636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577871093	chr11:32387661-32387662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200321974	chr11:32387668-32387669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187179808	chr11:32387685-32387686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191269927	chr11:32387694-32387695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375558766	chr11:32387700-32387701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144164761	chr11:32387708-32387709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11031750	chr11:32387713-32387714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572782427	chr11:32387721-32387722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541489230	chr11:32387722-32387723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182680314	chr11:32387724-32387725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368268642	chr11:32387727-32387728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377544051	chr11:32387732-32387733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575286147	chr11:32387733-32387734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199739239	chr11:32387751-32387752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187025197	chr11:32387754-32387755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534461364	chr11:32387773-32387774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192608967	chr11:32387787-32387788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113078736	chr11:32387797-32387798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367884942	chr11:32387802-32387803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533234281	chr11:32387803-32387804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546931803	chr11:32387810-32387811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560473499	chr11:32387818-32387819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372175499	chr11:32387822-32387823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529262272	chr11:32387826-32387827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201413284	chr11:32387827-32387828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199689898	chr11:32387845-32387846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141844682	chr11:32387855-32387856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs398097463	chr11:32387866-32387867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549153455	chr11:32387870-32387871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569322967	chr11:32387879-32387880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7105538	chr11:32387919-32387920	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs7105549	chr11:32387936-32387937	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs571526173	chr11:32387939-32387940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534159216	chr11:32387956-32387957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554022670	chr11:32387986-32387987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Wilms tumour	17204608	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32375800-32387600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:32386800-32387600	Active TSS	K562	blood
3	chr11:32387600-32387800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:32387800-32388200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:32387800-32388600	Enhancers	Ovary	ovary
6	chr11:32388000-32388800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:32388200-32388600	Enhancers	Adipose Nuclei	Adipose
8	chr11:32388200-32388800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:32388200-32388800	Enhancers	HepG2	liver
10	chr11:32389600-32390000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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